Publicacions en revistes (45 registres)
Any: 2020
Id. GREC: 687509   Any: 2020   Autors: Urreizti, R.; Mayer, K.; Evrony, G.; Said, E.; Castilla-Vallmanya, L.; Cody, N.; Plasencia, G.; Gelb, B.; Grinberg, D.; Brinkmann, U.; Webb, B.; Balcells, S.   Títol: DPH1 syndrome: Two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients   Revista: European Journal of Human Genetics
Id. GREC: 692482   Any: 2020   Autors: Leon, E.; Diaz, J.; Castilla-Vallmanya, L.; Grinberg, D.; Balcells, S.; Urreizti, R.   Títol: Extending the phenotypic spectrum of Bohring-Opitz syndrome: mild case confirmed by functional studies   Revista: American Journal of Medical Genetics Part A
Id. GREC: 693885   Any: 2020   Autors: Roth Mota, N.; Poelmans, G.; Klein, M.; Torrico, B.; Fernàndez-Castillo, N.; Cormand, B.; Reif, A.; Franke, B.; Arias Vásquez, A.   Títol: Cross-disorder genetic analyses implicate dopaminergic signaling as a biological link between Attention-Deficit/Hyperactivity Disorder and obesity measures   Revista: Neuropsychopharmacology   Dipositada al Repositori Institucional
Id. GREC: 694725   Any: 2020   Autors: Pineda-Cirera, L.; Cabana-Domínguez, J.; Benetó, N.; Díeze, H.; Arenas, C.; Cormand, B.; Fernàndez-Castillo, N.   Títol: DDC expression is not regulated by NFAT5 (TonEBP) in dopaminergic neural cell lines upon hypertonic stress   Revista: Gene
Id. GREC: 693418   Any: 2020   Autors: Benetó, N.; Cozar, M.; Gort, L.; Pacheco, L.; Vilageliu, L.; Grinberg, D.; Canals, I.   Títol: Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome   Revista: Stem Cell Research
Id. GREC: 695109   Any: 2020   Autors: Urreizti, R.; López-Martin, E.; Martínez-Monseny, A.; Pujadas, M.; Castilla-Vallmanya, L.; Pérez-Jurado, L.A.; Serrano, M.; Natera de Benito, D.; Martínez-Delgado, B.; Posada-de-la-Paz, M.; Alonso, J.; Marin-Reina, P.; O'Callghan, M.; Grinberg, D.; Bermejo-Sánchez, E.; Balcells, S.   Títol: Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum   Revista: Orphanet Journal of Rare Diseases   Dipositada al Repositori Institucional
Id. GREC: 699643   Any: 2020   Autors: Mirra, S.; Marfany, G.; Garcia-Fernàndez, J.   Títol: Under pressure: Cerebrospinal fluid contribution to the physiological homeostasis of the eye   Revista: Seminars in Cell & Developmental Biology   Dipositada al Repositori Institucional